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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1384583 | Congenital absence of germinal epithelium of testes | TEX101 | 83639 | testis expressed 101 | Q9BY14 |
| C0018817 | Atrial Septal Defects | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0271441 | Chronic otitis media | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0019294 | Hernia, Inguinal | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0344315 | Depressed mood | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011581 | Depressive disorder | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011570 | Mental Depression | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011265 | Presenile dementia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1854466 | Temtamy preaxial brachydactyly syndrome | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0009081 | Congenital clubfoot | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011813 | Dextrocardia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0497327 | Dementia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1531647 | Cerebral ventriculomegaly | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0008924 | Cleft upper lip | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0008925 | Cleft Palate | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0013336 | Dwarfism | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1306503 | Congenital exomphalos | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0000768 | Congenital Abnormality | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0010417 | Cryptorchidism | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0018818 | Ventricular Septal Defects | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0036572 | Seizures | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0015934 | Fetal Growth Retardation | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0206620 | Lymphangioma, Cystic | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0036439 | Scoliosis, unspecified | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1306459 | Primary malignant neoplasm | THEM4 | 117145 | thioesterase superfamily member 4 | Q5T1C6 |
